Ontology highlight
ABSTRACT:
SUBMITTER: Dhandapany PS
PROVIDER: S-EPMC4049514 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Nature genetics 20140428 6
Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ancestry, we discovered rare, functional RAF1 mutations in 3 of the cohorts (South Indian, North Indian and Japanese). The prevalence of RAF1 mutations was ~9% in childhood-onset DC ...[more]